Pyruvate kinase L/R (PKLR) gene is mapped to human chromosome 1q22. This gene codes for two isoforms pyruvate kinase L (PKL) and pyruvate kinase R (PKR), which are exclusively expressed in liver and red blood cells, respectively.
Storage: -20C
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Biochem Physiol Actions: Pyruvate kinase plays a vital role in the rate limiting step of glycolytic pathway by irreversibly catalyzing the conversion of phosphoenolpyruvate to pyruvate. Mutation in PKLR gene is associated with the development of neonatal hyperferritinaemia.
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